FSMA Position Statement on Newborn Screening

Summary:

Newborn screening identifies children at increased risk for certain inherited and genetic diseases through a blood test within the first few days after birth.

Families of Spinal Muscular Atrophy (FSMA) believes that all newborns should be screened for Spinal Muscular Atrophy at birth.

FSMA believes that the existence of a treatment, cure, or biomarker should not be the determining factors for inclusion of a disease in the Federal Newborn Screening Panel. An early diagnosis is critical for other important reasons.

FSMA believes that early diagnosis of SMA and early medical intervention will extend life for babies with SMA, improve quality of life, and help families.

Newborn screening for SMA is an issue of major importance to the SMA community and to the future of SMA research.  Families of Spinal Muscular Atrophy will continue to advocate aggressively for the inclusion of SMA in the Federal Newborn Screening Panel and for legislation that improves Federal newborn screening policies.  These steps will bring us closer to the reality of newborn screening for SMA in all states

Click here for the full Position Statement on Newborn Screening (2 pages).

See below for more background information on newborn screening issues, their importance to SMA research, the Federal government’s role, and current/future activities by FSMA.

Click here for more information on FSMA’s leadership role in advocating for the addition of SMA to the Federal Uniform Newborn Screening Panel. See the June 23 news announcement in the FSMA Legislative Section, here.

Click here for more information on The Newborn Screening Saves Lives Act, legislation we are fighting for.

General Information:

“Newborn screening” refers to the process of testing and screening the blood of newborns for certain hereditary disorders and genetic diseases.  It is a state-based public health program; states and territories mandate newborn screening of all infants born within their jurisdiction for certain disorders that may not otherwise be detected before developmental disability or death occurs.

To date, no state or territory tests newborns for SMA due, primarily, to an historical bias against screening for disorders that do not have a treatment or cure.  The technology exists to screen for SMA; Dr. Thomas W. Prior of Ohio State University developed a SMA newborn screen in 1997.  The test is highly accurate with 95 percent sensitivity and 99 percent specificity. 

Newborn Screening and its Importance to SMA Research

Newborn screening can play a vital role in SMA research, clinical trials, and drug development.  Specifically, newborn screening allows for the identification of SMA patients pre-symptomatically.  Early diagnosis is paramount as preliminary data in human and mice models indicates that pre-symptomatic drug intervention is more effective than post-symptomatic.  Additionally, natural history data indicates only a small opportunity for intervention in the most common and severe form of SMA, Type I.  Consequently, pre-symptomatic enrollment into clinical trials may greatly enhance the chance of identifying an effective drug intervention for SMA, particularly for Type I SMA infants. 

Additionally, diagnosis at birth would allow patients to obtain proactive treatment earlier in the disease progression with regard to nutrition, physical therapy, and respiratory care, which will lead to a better quality of life, reduce respiratory morbidity, and extend lifespan; it will eliminate the pain and cost of unnecessary testing that otherwise would take place in attempting to diagnose an affected patient; and it would provide parents with earlier genetic counseling before they are likely to have a second affected child, which frequently occurs when diagnosis is delayed.

The Federal Government's Role

Historically, the federal government’s role in newborn screening has been advisory in nature.  Congress mandated greater federal involvement in the Children’s Health Act of 2000 in order to address the disparity between the numbers of disorders screened for by the states and to standardize screening activities.  The Children’s Health Act established grants to assist states in carrying out their newborn screening responsibilities and required the Secretary of Health and Human Services (HHS) to establish an Advisory Committee on Heritable Disorders in Newborns and Children.  The Advisory Committee was established in 2004.

In 2005, the Advisory Committee and the American College of Medical Genetics (ACMG) jointly released an advisory federal screening panel containing 29 disorders for which screening should be mandated by the states.  The number of disorders for which states mandate screening has dramatically increased as a result of the Advisory Committee’s work.   

Unfortunately, SMA was not considered for inclusion in the federal panel due to the absence of a treatment.  Families of SMA has worked hard to alter this bias and to advocate for the inclusion of SMA in the panel.  The links above can provide you with detailed information on Families of SMA's efforts.

Current and Future Activities by Families of SMA

The Advisory Committee has been working to develop a methodology and process for expanding the panel.  Recently, the Advisory Committee placed on its website a Nomination Form to request formal consideration for addition of a hereditary disorder to the federal panel; Families of SMA participated in a pilot study of the form in 2006.  The Advisory Committee recently finalized the criteria for reviewing nominated disorders. 

Families of SMA and its partners in the SMA community are preparing a Nomination Form for presentation to the Advisory Committee.  The Form is expected to be completed and submitted in the summer of 2008.  The community intends for the eventual inclusion of SMA in the federal panel to lead to the adoption of newborn screening for SMA by the states.